Orphan diseases list myelitis
NMOIs a rare relapsing autoimmune disorder that preferentially causes inflammation in the optic nerve and spinal cord. It is characterized by longitudinally extensive myelitis (myelitis which is 3 vertebral segments in length or greater), which can leave patients quite debilitated at presentation, and unilateral or bilateral optic neuritis. Some patients may present initially with optic neuritis or myelitis or both. Blood testing includes an anti-aquaporin-4 antibody (NMO-IgG) test, which is highly specific (>99%) with fair sensitivity (about 58%). Treatment for this disease involves acute management with therapies including IV methylprednisolone and PLEX, and prevention of future attacks with immunosuppressants including mycophenolate mofetil or rituximab, and aggressive rehabilitation.
Learn more about NMO:
Johns Hopkins Neuromyelitis Optica Research Lab
TM is sometimes a feature of relapsing-remitting multiple sclerosis (MS). This type of TM may be associated with demyelination or focal inflammation in the white matter of other regions of the central nervous system. In the past, many patients with monophasic forms of TM were erroneously classified as MS and, likewise, some MS patients were misdiagnosed as TM. The right diagnosis is critical for future management as treatment strategies may be very different for patients with MS compared to those with TM. In patients diagnosed with TM, a brain MRI and CSF studies are quite important to clarify the presence of MS. Brain MRI may help to identify the existence of areas of demyelination in other regions of the central nervous system other than the spinal cord. CSF studies may be helpful to determine if antibodies are being synthesized within the central nervous system (e.g., oligoclonal bands), a finding that may support a diagnosis of MS.
Systemic Erythematous Lupus
Systemic lupus erythematosus (SLE), often called lupus, is an autoimmune disorder that may involve the nervous system. Some of the most common symptoms are a facial rash, inflammation of the linings of the heart and lungs and kidney disease. About 1-3% of those with lupus develop TM.
You might also like
Neuroradiologic Findings in Rare Inherited Neurologic Diseases of Childhood: Muscle-Eye-Brain Disease, Mitochondrial Disorders and Infantile Onset Spinocerebellar Ataxia
Book (Department of Radiology, University of Helsinki)